Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000242566 | SCV000314895 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002058371 | SCV002404927 | likely benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency | 2023-12-19 | criteria provided, single submitter | clinical testing |